The 18th International HLA & Immunogenetics workshop project report: Creating fully representative MHC reference haplotypes
A fundamental endeavor of the International Histocompatibility and Immunogenetics Workshop (IHIW) was assembling a collection of DNA samples homozygous through the MHC genomic region. This collection proved invaluable for assay development in the histocompatibility and immunogenetics field, for gene...
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Veröffentlicht in: | HLA 2024-06, Vol.103 (6), p.e15568-n/a |
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Zusammenfassung: | A fundamental endeavor of the International Histocompatibility and Immunogenetics Workshop (IHIW) was assembling a collection of DNA samples homozygous through the
MHC
genomic region. This collection proved invaluable for assay development in the histocompatibility and immunogenetics field, for generating the human reference genome, and furthered our understanding of
MHC
diversity. Defined by their
HLA
‐
A
, ‐
B
, ‐
C
and ‐
DRB1
alleles, the combined frequency of the haplotypes from these individuals is ∼20% in Europe. Thus, a significant proportion of
MHC
haplotypes, both common and rare throughout the world, and including many associated with disease, are not yet represented. In this workshop component, we are collecting the next generation of
MHC
‐homozygous samples, to expand, diversify and modernize this critical community resource that has been foundational to the field. We asked laboratories worldwide to identify samples homozygous through all
HLA class I
and/or
HLA class II
genes, or through whole‐genome SNP genotyping or sequencing, to have extensive homozygosity tracts within the
MHC
region. The focus is non‐Europeans or those having
HLA
haplotypes less common in Europeans. Through this effort, we have obtained samples from 537 individuals representing 294 distinct haplotypes, as determined by their
HLA class I
and
II
alleles, and an additional 50 haplotypes distinct in
HLA class I
or
II
alleles. Although we have expanded the diversity, many populations remain underrepresented, particularly from Africa, and we encourage further participation. The data will serve as a resource for investigators seeking to characterise variation across the
MHC
genomic region for disease and population studies. [Correction added on [24 July 2024], after first online publication: the Abstract was inadvertently remove and has been reinstated in this version.] |
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ISSN: | 2059-2302 2059-2310 |
DOI: | 10.1111/tan.15568 |